Linked Data
ClinVar Variation Id:
133089
ClinVar RCV Id:
RCV000119550
dbSNP Id:
rs193922890
PubMed:
PMID:16917943
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38584977C>T , CM000681.2:g.38584977C>T | GRCh38 |
| NC_000019.9:g.39075617C>T , CM000681.1:g.39075617C>T | GRCh37 |
| NC_000019.8:g.43767457C>T | NCBI36 |
| NG_008866.1:g.156278C>T , LRG_766:g.156278C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1617C>T | ||
| ENST00000688602.1:c.3014C>T | ||
| ENST00000689936.1:c.2986C>T | ||
| ENST00000692547.1:n.74C>T | ||
| ENST00000359596.8:c.14681C>T MANE Select | ENSP00000352608.2:p.Ala4894Val | |
| ENST00000355481.8:c.14666C>T | ENSP00000347667.3:p.Ala4889Val | |
| ENST00000359596.7:c.14681C>T | ENSP00000352608.2:p.Ala4894Val | |
| ENST00000360985.7:c.14663C>T | ENSP00000354254.4:p.Ala4888Val | |
| NM_000540.2:c.14681C>T , LRG_766t1:c.14681C>T | NP_000531.2:p.Ala4894Val | |
| NM_001042723.1:c.14666C>T | NP_001036188.1:p.Ala4889Val | |
| XM_006723317.1:c.14663C>T | XP_006723380.1:p.Ala4888Val | |
| XM_006723319.1:c.14648C>T | XP_006723382.1:p.Ala4883Val | |
| XM_011527204.1:c.14678C>T | XP_011525506.1:p.Ala4893Val | |
| XM_011527205.1:c.14594C>T | XP_011525507.1:p.Ala4865Val | |
| XM_006723317.2:c.14663C>T | XP_006723380.1:p.Ala4888Val | |
| XM_006723319.2:c.14648C>T | XP_006723382.1:p.Ala4883Val | |
| XM_011527205.2:c.14594C>T | XP_011525507.1:p.Ala4865Val | |
| NM_000540.3:c.14681C>T MANE Select | NP_000531.2:p.Ala4894Val | |
| NM_001042723.2:c.14666C>T | NP_001036188.1:p.Ala4889Val |